Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00583:Golph3l'

332706

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Golph3l

Ensembl Gene

ENSMUSG00000046519

Gene Name

golgi phosphoprotein 3-like

Synonyms

GPP34R, 2010204I15Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.178) question?

Stock #

IGL00583

Quality Score

Status

Chromosome

Chromosomal Location

95496280-95526553 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95496414 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 46 (L46P)

Ref Sequence

ENSEMBL: ENSMUSP00000058654 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029754] [ENSMUST00000060323] [ENSMUST00000090797] [ENSMUST00000098861] [ENSMUST00000107154] [ENSMUST00000171191] [ENSMUST00000177390]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000029754

SMART Domains

Protein: ENSMUSP00000029754
Gene: ENSMUSG00000028109

Domain	Start	End	E-Value	Type
Pfam:HORMA	24	221	4.7e-63	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060323
AA Change: L46P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000058654
Gene: ENSMUSG00000046519
AA Change: L46P

Domain	Start	End	E-Value	Type
Pfam:GPP34	50	275	8.5e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000090797

SMART Domains

Protein: ENSMUSP00000088303
Gene: ENSMUSG00000028109

Domain	Start	End	E-Value	Type
Pfam:HORMA	23	221	5.4e-60	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098861
AA Change: L46P

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000096460
Gene: ENSMUSG00000046519
AA Change: L46P

Domain	Start	End	E-Value	Type
low complexity region	58	69	N/A	INTRINSIC
low complexity region	72	83	N/A	INTRINSIC
Pfam:GPP34	106	277	5.1e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107154

SMART Domains

Protein: ENSMUSP00000102772
Gene: ENSMUSG00000028109

Domain	Start	End	E-Value	Type
Pfam:HORMA	23	221	5.4e-60	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171191

SMART Domains

Protein: ENSMUSP00000127180
Gene: ENSMUSG00000028109

Domain	Start	End	E-Value	Type
Pfam:HORMA	23	221	5.4e-60	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000176541
AA Change: L41P

Predicted Effect

possibly damaging
Transcript: ENSMUST00000177390
AA Change: L46P

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000134799
Gene: ENSMUSG00000046519
AA Change: L46P

Domain	Start	End	E-Value	Type
low complexity region	58	69	N/A	INTRINSIC
low complexity region	72	83	N/A	INTRINSIC
Pfam:GPP34	106	332	8.3e-61	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000176755
AA Change: L43P

SMART Domains

Protein: ENSMUSP00000134804
Gene: ENSMUSG00000046519
AA Change: L43P

Domain	Start	End	E-Value	Type
low complexity region	56	67	N/A	INTRINSIC
low complexity region	70	81	N/A	INTRINSIC
Pfam:GPP34	104	275	7.5e-51	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000177389
AA Change: L45P

Predicted Effect

unknown
Transcript: ENSMUST00000176674
AA Change: L45P

SMART Domains

Protein: ENSMUSP00000134885
Gene: ENSMUSG00000046519
AA Change: L45P

Domain	Start	End	E-Value	Type
low complexity region	58	69	N/A	INTRINSIC
low complexity region	72	83	N/A	INTRINSIC
Pfam:GPP34	104	288	2.4e-39	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000177399
AA Change: L38P

SMART Domains

Protein: ENSMUSP00000134998
Gene: ENSMUSG00000046519
AA Change: L38P

Domain	Start	End	E-Value	Type
Pfam:GPP34	23	170	5.4e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198013

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is localized at the Golgi stack and may have a regulatory role in Golgi trafficking. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts6	C	T	13: 104,433,726 (GRCm39)	Q52*	probably null	Het
Ambp	G	T	4: 63,072,255 (GRCm39)	A13D	possibly damaging	Het
Angptl3	A	G	4: 98,923,077 (GRCm39)	T283A	probably damaging	Het
Atp13a5	A	T	16: 29,094,205 (GRCm39)		probably benign	Het
Borcs8	A	G	8: 70,597,757 (GRCm39)	H93R	probably benign	Het
Bzw1	T	C	1: 58,440,494 (GRCm39)		probably benign	Het
Cd200	A	C	16: 45,217,472 (GRCm39)	I73R	probably damaging	Het
Coq8a	T	C	1: 179,995,954 (GRCm39)	D528G	probably benign	Het
Edem1	T	A	6: 108,832,520 (GRCm39)		probably benign	Het
Enpp5	C	T	17: 44,396,088 (GRCm39)		probably benign	Het
Eprs1	G	T	1: 185,139,345 (GRCm39)	C910F	probably benign	Het
Erich6	T	C	3: 58,544,464 (GRCm39)	E41G	unknown	Het
Gls2	A	G	10: 128,040,751 (GRCm39)	M340V	probably benign	Het
Gna12	A	T	5: 140,746,773 (GRCm39)	V224E	probably damaging	Het
Limch1	T	C	5: 67,111,022 (GRCm39)	I83T	probably damaging	Het
Mas1	T	C	17: 13,060,852 (GRCm39)	I190M	possibly damaging	Het
Mefv	T	A	16: 3,533,936 (GRCm39)	K112*	probably null	Het
Oas1e	T	A	5: 120,932,337 (GRCm39)	E102V	probably damaging	Het
Pde6a	T	C	18: 61,390,339 (GRCm39)	C521R	probably damaging	Het
Pigw	A	G	11: 84,768,714 (GRCm39)	V205A	possibly damaging	Het
Ptpn21	G	A	12: 98,699,860 (GRCm39)	S18F	probably damaging	Het
Shprh	C	T	10: 11,063,764 (GRCm39)	T1279I	probably benign	Het
Slc11a2	T	C	15: 100,295,618 (GRCm39)	E501G	probably benign	Het
Sult2a3	T	A	7: 13,856,905 (GRCm39)	Y5F	probably benign	Het
Tll1	A	G	8: 64,658,326 (GRCm39)	L31P	probably benign	Het
Tubgcp3	G	A	8: 12,671,906 (GRCm39)	Q779*	probably null	Het
U2surp	T	A	9: 95,343,577 (GRCm39)		probably benign	Het

Other mutations in Golph3l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01299:Golph3l	APN	3	95,524,588 (GRCm39)	missense	possibly damaging	0.71
R0749:Golph3l	UTSW	3	95,515,260 (GRCm39)	missense	probably damaging	1.00
R2021:Golph3l	UTSW	3	95,524,668 (GRCm39)	missense	probably benign	0.01
R2161:Golph3l	UTSW	3	95,524,436 (GRCm39)	missense	probably damaging	1.00
R2359:Golph3l	UTSW	3	95,499,275 (GRCm39)	splice site	probably null
R3015:Golph3l	UTSW	3	95,499,024 (GRCm39)	intron	probably benign
R4828:Golph3l	UTSW	3	95,499,059 (GRCm39)	missense	possibly damaging	0.63
R4933:Golph3l	UTSW	3	95,524,734 (GRCm39)	missense	probably benign	0.00
R5088:Golph3l	UTSW	3	95,524,501 (GRCm39)	missense	possibly damaging	0.55
R6132:Golph3l	UTSW	3	95,499,145 (GRCm39)	missense	probably benign	0.30
R6339:Golph3l	UTSW	3	95,524,750 (GRCm39)	missense	probably damaging	1.00
R7595:Golph3l	UTSW	3	95,517,094 (GRCm39)	missense	probably benign	0.09
R8164:Golph3l	UTSW	3	95,524,517 (GRCm39)	missense	probably benign	0.06
R9435:Golph3l	UTSW	3	95,496,369 (GRCm39)	missense	probably benign	0.00
R9763:Golph3l	UTSW	3	95,517,085 (GRCm39)	missense	possibly damaging	0.76
R9779:Golph3l	UTSW	3	95,499,041 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-08-05